Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.4816934A>C | CA403489597 | TICAM1 | c.1444T>G (p.Ser482Ala) c.1027T>G (p.Ser343Ala) c.1402T>G (p.Ser468Ala) c.1309T>G (p.Ser437Ala) c.802T>G (p.Ser268Ala) | |
19 | g.4816934A>G | CA403489598 | TICAM1 | c.1444T>C (p.Ser482Pro) c.1027T>C (p.Ser343Pro) c.1402T>C (p.Ser468Pro) c.1309T>C (p.Ser437Pro) c.802T>C (p.Ser268Pro) | |
19 | g.4816934A>T | CA403489600 | TICAM1 | c.1444T>A (p.Ser482Thr) c.1027T>A (p.Ser343Thr) c.1402T>A (p.Ser468Thr) c.1309T>A (p.Ser437Thr) c.802T>A (p.Ser268Thr) | |
19 | g.4816935C>A | CA505174395 | TICAM1 | c.1443G>T (p.Gly481=) c.1026G>T (p.Gly342=) c.1401G>T (p.Gly467=) c.1308G>T (p.Gly436=) c.801G>T (p.Gly267=) | gnomAD v4 |
19 | g.4816935C>G | CA505174396 | TICAM1 | c.1443G>C (p.Gly481=) c.1026G>C (p.Gly342=) c.1401G>C (p.Gly467=) c.1308G>C (p.Gly436=) c.801G>C (p.Gly267=) | |
19 | g.4816935C>T | CA505174397 | TICAM1 | c.1443G>A (p.Gly481=) c.1026G>A (p.Gly342=) c.1401G>A (p.Gly467=) c.1308G>A (p.Gly436=) c.801G>A (p.Gly267=) | |
19 | g.4816936C>A | CA403489603 | TICAM1 | c.1442G>T (p.Gly481Val) c.1025G>T (p.Gly342Val) c.1400G>T (p.Gly467Val) c.1307G>T (p.Gly436Val) c.800G>T (p.Gly267Val) | |
19 | g.4816936C= | CA2319605081 | TICAM1 | c.1442G= (p.Gly481=) c.1025G= (p.Gly342=) c.1400G= (p.Gly467=) c.1307G= (p.Gly436=) c.800G= (p.Gly267=) | |
19 | g.4816936C>G | CA9105134 | TICAM1 | c.1442G>C (p.Gly481Ala) c.1025G>C (p.Gly342Ala) c.1400G>C (p.Gly467Ala) c.1307G>C (p.Gly436Ala) c.800G>C (p.Gly267Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816936C>T | CA403489605 | TICAM1 | c.1442G>A (p.Gly481Glu) c.1025G>A (p.Gly342Glu) c.1400G>A (p.Gly467Glu) c.1307G>A (p.Gly436Glu) c.800G>A (p.Gly267Glu) | |
19 | g.4816937C>A | CA9105135 | TICAM1 | c.1441G>T (p.Gly481Trp) c.1024G>T (p.Gly342Trp) c.1399G>T (p.Gly467Trp) c.1306G>T (p.Gly436Trp) c.799G>T (p.Gly267Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816937C= | CA2319605082 | TICAM1 | c.1441G= (p.Gly481=) c.1024G= (p.Gly342=) c.1399G= (p.Gly467=) c.1306G= (p.Gly436=) c.799G= (p.Gly267=) | |
19 | g.4816937C>G | CA403489610 | TICAM1 | c.1441G>C (p.Gly481Arg) c.1024G>C (p.Gly342Arg) c.1399G>C (p.Gly467Arg) c.1306G>C (p.Gly436Arg) c.799G>C (p.Gly267Arg) | |
19 | g.4816937C>T | CA403489608 | TICAM1 | c.1441G>A (p.Gly481Arg) c.1024G>A (p.Gly342Arg) c.1399G>A (p.Gly467Arg) c.1306G>A (p.Gly436Arg) c.799G>A (p.Gly267Arg) | ClinVar dbSNP |
19 | g.4816938C>A | CA403489612 | TICAM1 | c.1440G>T (p.Gln480His) c.1023G>T (p.Gln341His) c.1398G>T (p.Gln466His) c.1305G>T (p.Gln435His) c.798G>T (p.Gln266His) | |
19 | g.4816938C>G | CA403489613 | TICAM1 | c.1440G>C (p.Gln480His) c.1023G>C (p.Gln341His) c.1398G>C (p.Gln466His) c.1305G>C (p.Gln435His) c.798G>C (p.Gln266His) | |
19 | g.4816938C>T | CA505174406 | TICAM1 | c.1440G>A (p.Gln480=) c.1023G>A (p.Gln341=) c.1398G>A (p.Gln466=) c.1305G>A (p.Gln435=) c.798G>A (p.Gln266=) | gnomAD v4 |
19 | g.4816939T>A | CA403489616 | TICAM1 | c.1439A>T (p.Gln480Leu) c.1022A>T (p.Gln341Leu) c.1397A>T (p.Gln466Leu) c.1304A>T (p.Gln435Leu) c.797A>T (p.Gln266Leu) | |
19 | g.4816939T>C | CA403489618 | TICAM1 | c.1439A>G (p.Gln480Arg) c.1022A>G (p.Gln341Arg) c.1397A>G (p.Gln466Arg) c.1304A>G (p.Gln435Arg) c.797A>G (p.Gln266Arg) | |
19 | g.4816939T>G | CA403489620 | TICAM1 | c.1439A>C (p.Gln480Pro) c.1022A>C (p.Gln341Pro) c.1397A>C (p.Gln466Pro) c.1304A>C (p.Gln435Pro) c.797A>C (p.Gln266Pro) | |
19 | g.4816940G>A | CA403489622 | TICAM1 | c.1438C>T (p.Gln480Ter) c.1021C>T (p.Gln341Ter) c.1396C>T (p.Gln466Ter) c.1303C>T (p.Gln435Ter) c.796C>T (p.Gln266Ter) | |
19 | g.4816940G>C | CA403489624 | TICAM1 | c.1438C>G (p.Gln480Glu) c.1021C>G (p.Gln341Glu) c.1396C>G (p.Gln466Glu) c.1303C>G (p.Gln435Glu) c.796C>G (p.Gln266Glu) | gnomAD v4 |
19 | g.4816940G>T | CA403489626 | TICAM1 | c.1438C>A (p.Gln480Lys) c.1021C>A (p.Gln341Lys) c.1396C>A (p.Gln466Lys) c.1303C>A (p.Gln435Lys) c.796C>A (p.Gln266Lys) | |
19 | g.4816941T>A | CA505174408 | TICAM1 | c.1437A>T (p.Arg479=) c.1020A>T (p.Arg340=) c.1395A>T (p.Arg465=) c.1302A>T (p.Arg434=) c.795A>T (p.Arg265=) | gnomAD v4 |
19 | g.4816941T>C | CA505174409 | TICAM1 | c.1437A>G (p.Arg479=) c.1020A>G (p.Arg340=) c.1395A>G (p.Arg465=) c.1302A>G (p.Arg434=) c.795A>G (p.Arg265=) | gnomAD v4 |
19 | g.4816941T>G | CA9105136 | TICAM1 | c.1437A>C (p.Arg479=) c.1020A>C (p.Arg340=) c.1395A>C (p.Arg465=) c.1302A>C (p.Arg434=) c.795A>C (p.Arg265=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816941T= | CA2319605083 | TICAM1 | c.1437A= (p.Arg479=) c.1020A= (p.Arg340=) c.1395A= (p.Arg465=) c.1302A= (p.Arg434=) c.795A= (p.Arg265=) | |
19 | g.4816942C>A | CA9105137 | TICAM1 | c.1436G>T (p.Arg479Leu) c.1019G>T (p.Arg340Leu) c.1394G>T (p.Arg465Leu) c.1301G>T (p.Arg434Leu) c.794G>T (p.Arg265Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816942C= | CA2319605084 | TICAM1 | c.1436G= (p.Arg479=) c.1019G= (p.Arg340=) c.1394G= (p.Arg465=) c.1301G= (p.Arg434=) c.794G= (p.Arg265=) | |
19 | g.4816942C>G | CA403489630 | TICAM1 | c.1436G>C (p.Arg479Pro) c.1019G>C (p.Arg340Pro) c.1394G>C (p.Arg465Pro) c.1301G>C (p.Arg434Pro) c.794G>C (p.Arg265Pro) | |
19 | g.4816942C>T | CA9105138 | TICAM1 | c.1436G>A (p.Arg479Gln) c.1019G>A (p.Arg340Gln) c.1394G>A (p.Arg465Gln) c.1301G>A (p.Arg434Gln) c.794G>A (p.Arg265Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816943G>A | CA403489633 | TICAM1 | c.1435C>T (p.Arg479Ter) c.1018C>T (p.Arg340Ter) c.1393C>T (p.Arg465Ter) c.1300C>T (p.Arg434Ter) c.793C>T (p.Arg265Ter) | dbSNP COSMIC |
19 | g.4816943G>C | CA403489635 | TICAM1 | c.1435C>G (p.Arg479Gly) c.1018C>G (p.Arg340Gly) c.1393C>G (p.Arg465Gly) c.1300C>G (p.Arg434Gly) c.793C>G (p.Arg265Gly) | |
19 | g.4816943G= | CA2319605085 | TICAM1 | c.1435C= (p.Arg479=) c.1018C= (p.Arg340=) c.1393C= (p.Arg465=) c.1300C= (p.Arg434=) c.793C= (p.Arg265=) | |
19 | g.4816943G>T | CA505174410 | TICAM1 | c.1435C>A (p.Arg479=) c.1018C>A (p.Arg340=) c.1393C>A (p.Arg465=) c.1300C>A (p.Arg434=) c.793C>A (p.Arg265=) | |
19 | g.4816944C>A | CA505174412 | TICAM1 | c.1434G>T (p.Thr478=) c.1017G>T (p.Thr339=) c.1392G>T (p.Thr464=) c.1299G>T (p.Thr433=) c.792G>T (p.Thr264=) | |
19 | g.4816944C= | CA2319605086 | TICAM1 | c.1434G= (p.Thr478=) c.1017G= (p.Thr339=) c.1392G= (p.Thr464=) c.1299G= (p.Thr433=) c.792G= (p.Thr264=) | |
19 | g.4816944C>G | CA505174411 | TICAM1 | c.1434G>C (p.Thr478=) c.1017G>C (p.Thr339=) c.1392G>C (p.Thr464=) c.1299G>C (p.Thr433=) c.792G>C (p.Thr264=) | |
19 | g.4816944C>T | CA9105139 | TICAM1 | c.1434G>A (p.Thr478=) c.1017G>A (p.Thr339=) c.1392G>A (p.Thr464=) c.1299G>A (p.Thr433=) c.792G>A (p.Thr264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816945G>A | CA403489638 | TICAM1 | c.1433C>T (p.Thr478Met) c.1016C>T (p.Thr339Met) c.1391C>T (p.Thr464Met) c.1298C>T (p.Thr433Met) c.791C>T (p.Thr264Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816945G>C | CA403489640 | TICAM1 | c.1433C>G (p.Thr478Arg) c.1016C>G (p.Thr339Arg) c.1391C>G (p.Thr464Arg) c.1298C>G (p.Thr433Arg) c.791C>G (p.Thr264Arg) | |
19 | g.4816945G= | CA2319605087 | TICAM1 | c.1433C= (p.Thr478=) c.1016C= (p.Thr339=) c.1391C= (p.Thr464=) c.1298C= (p.Thr433=) c.791C= (p.Thr264=) | |
19 | g.4816945G>T | CA403489642 | TICAM1 | c.1433C>A (p.Thr478Lys) c.1016C>A (p.Thr339Lys) c.1391C>A (p.Thr464Lys) c.1298C>A (p.Thr433Lys) c.791C>A (p.Thr264Lys) | gnomAD v4 |
19 | g.4816946T>A | CA403489644 | TICAM1 | c.1432A>T (p.Thr478Ser) c.1015A>T (p.Thr339Ser) c.1390A>T (p.Thr464Ser) c.1297A>T (p.Thr433Ser) c.790A>T (p.Thr264Ser) | |
19 | g.4816946T>C | CA403489646 | TICAM1 | c.1432A>G (p.Thr478Ala) c.1015A>G (p.Thr339Ala) c.1390A>G (p.Thr464Ala) c.1297A>G (p.Thr433Ala) c.790A>G (p.Thr264Ala) | |
19 | g.4816946T>G | CA403489648 | TICAM1 | c.1432A>C (p.Thr478Pro) c.1015A>C (p.Thr339Pro) c.1390A>C (p.Thr464Pro) c.1297A>C (p.Thr433Pro) c.790A>C (p.Thr264Pro) | |
19 | g.4816947G>A | CA9105140 | TICAM1 | c.1431C>T (p.Leu477=) c.1014C>T (p.Leu338=) c.1389C>T (p.Leu463=) c.1296C>T (p.Leu432=) c.789C>T (p.Leu263=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816947G>C | CA505174219 | TICAM1 | c.1431C>G (p.Leu477=) c.1014C>G (p.Leu338=) c.1389C>G (p.Leu463=) c.1296C>G (p.Leu432=) c.789C>G (p.Leu263=) | |
19 | g.4816947G= | CA2319605088 | TICAM1 | c.1431C= (p.Leu477=) c.1014C= (p.Leu338=) c.1389C= (p.Leu463=) c.1296C= (p.Leu432=) c.789C= (p.Leu263=) | |
19 | g.4816947G>T | CA505174221 | TICAM1 | c.1431C>A (p.Leu477=) c.1014C>A (p.Leu338=) c.1389C>A (p.Leu463=) c.1296C>A (p.Leu432=) c.789C>A (p.Leu263=) | |
19 | g.4816948A>C | CA403489652 | TICAM1 | c.1430T>G (p.Leu477Arg) c.1013T>G (p.Leu338Arg) c.1388T>G (p.Leu463Arg) c.1295T>G (p.Leu432Arg) c.788T>G (p.Leu263Arg) | |
19 | g.4816948A>G | CA403489653 | TICAM1 | c.1430T>C (p.Leu477Pro) c.1013T>C (p.Leu338Pro) c.1388T>C (p.Leu463Pro) c.1295T>C (p.Leu432Pro) c.788T>C (p.Leu263Pro) | |
19 | g.4816948A>T | CA403489655 | TICAM1 | c.1430T>A (p.Leu477His) c.1013T>A (p.Leu338His) c.1388T>A (p.Leu463His) c.1295T>A (p.Leu432His) c.788T>A (p.Leu263His) | |
19 | g.4816949G>A | CA403489657 | TICAM1 | c.1429C>T (p.Leu477Phe) c.1012C>T (p.Leu338Phe) c.1387C>T (p.Leu463Phe) c.1294C>T (p.Leu432Phe) c.787C>T (p.Leu263Phe) | |
19 | g.4816949G>C | CA403489659 | TICAM1 | c.1429C>G (p.Leu477Val) c.1012C>G (p.Leu338Val) c.1387C>G (p.Leu463Val) c.1294C>G (p.Leu432Val) c.787C>G (p.Leu263Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4816949G= | CA2319605089 | TICAM1 | c.1429C= (p.Leu477=) c.1012C= (p.Leu338=) c.1387C= (p.Leu463=) c.1294C= (p.Leu432=) c.787C= (p.Leu263=) | |
19 | g.4816949G>T | CA403489661 | TICAM1 | c.1429C>A (p.Leu477Ile) c.1012C>A (p.Leu338Ile) c.1387C>A (p.Leu463Ile) c.1294C>A (p.Leu432Ile) c.787C>A (p.Leu263Ile) | dbSNP gnomAD v2 |
19 | g.4816950G>A | CA9105141 | TICAM1 | c.1428C>T (p.Asn476=) c.1011C>T (p.Asn337=) c.1386C>T (p.Asn462=) c.1293C>T (p.Asn431=) c.786C>T (p.Asn262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816950G>C | CA403489663 | TICAM1 | c.1428C>G (p.Asn476Lys) c.1011C>G (p.Asn337Lys) c.1386C>G (p.Asn462Lys) c.1293C>G (p.Asn431Lys) c.786C>G (p.Asn262Lys) | |
19 | g.4816950G= | CA2319605090 | TICAM1 | c.1428C= (p.Asn476=) c.1011C= (p.Asn337=) c.1386C= (p.Asn462=) c.1293C= (p.Asn431=) c.786C= (p.Asn262=) | |
19 | g.4816950G>T | CA304547459 | TICAM1 | c.1428C>A (p.Asn476Lys) c.1011C>A (p.Asn337Lys) c.1386C>A (p.Asn462Lys) c.1293C>A (p.Asn431Lys) c.786C>A (p.Asn262Lys) | dbSNP |
19 | g.4816951T>A | CA403489667 | TICAM1 | c.1427A>T (p.Asn476Ile) c.1010A>T (p.Asn337Ile) c.1385A>T (p.Asn462Ile) c.1292A>T (p.Asn431Ile) c.785A>T (p.Asn262Ile) | |
19 | g.4816951T>C | CA403489669 | TICAM1 | c.1427A>G (p.Asn476Ser) c.1010A>G (p.Asn337Ser) c.1385A>G (p.Asn462Ser) c.1292A>G (p.Asn431Ser) c.785A>G (p.Asn262Ser) | gnomAD v4 |
19 | g.4816951T>G | CA403489668 | TICAM1 | c.1427A>C (p.Asn476Thr) c.1010A>C (p.Asn337Thr) c.1385A>C (p.Asn462Thr) c.1292A>C (p.Asn431Thr) c.785A>C (p.Asn262Thr) | |
19 | g.4816952T>A | CA403489671 | TICAM1 | c.1426A>T (p.Asn476Tyr) c.1009A>T (p.Asn337Tyr) c.1384A>T (p.Asn462Tyr) c.1291A>T (p.Asn431Tyr) c.784A>T (p.Asn262Tyr) | |
19 | g.4816952T>C | CA403489674 | TICAM1 | c.1426A>G (p.Asn476Asp) c.1009A>G (p.Asn337Asp) c.1384A>G (p.Asn462Asp) c.1291A>G (p.Asn431Asp) c.784A>G (p.Asn262Asp) | |
19 | g.4816952T>G | CA403489673 | TICAM1 | c.1426A>C (p.Asn476His) c.1009A>C (p.Asn337His) c.1384A>C (p.Asn462His) c.1291A>C (p.Asn431His) c.784A>C (p.Asn262His) | |
19 | g.4816953G>A | CA505174228 | TICAM1 | c.1425C>T (p.Ser475=) c.1008C>T (p.Ser336=) c.1383C>T (p.Ser461=) c.1290C>T (p.Ser430=) c.783C>T (p.Ser261=) | |
19 | g.4816953G>C | CA403489678 | TICAM1 | c.1425C>G (p.Ser475Arg) c.1008C>G (p.Ser336Arg) c.1383C>G (p.Ser461Arg) c.1290C>G (p.Ser430Arg) c.783C>G (p.Ser261Arg) | |
19 | g.4816953G>T | CA403489679 | TICAM1 | c.1425C>A (p.Ser475Arg) c.1008C>A (p.Ser336Arg) c.1383C>A (p.Ser461Arg) c.1290C>A (p.Ser430Arg) c.783C>A (p.Ser261Arg) | |
19 | g.4816954C>A | CA403489681 | TICAM1 | c.1424G>T (p.Ser475Ile) c.1007G>T (p.Ser336Ile) c.1382G>T (p.Ser461Ile) c.1289G>T (p.Ser430Ile) c.782G>T (p.Ser261Ile) | |
19 | g.4816954C>G | CA403489683 | TICAM1 | c.1424G>C (p.Ser475Thr) c.1007G>C (p.Ser336Thr) c.1382G>C (p.Ser461Thr) c.1289G>C (p.Ser430Thr) c.782G>C (p.Ser261Thr) | |
19 | g.4816954C>T | CA403489684 | TICAM1 | c.1424G>A (p.Ser475Asn) c.1007G>A (p.Ser336Asn) c.1382G>A (p.Ser461Asn) c.1289G>A (p.Ser430Asn) c.782G>A (p.Ser261Asn) | gnomAD v4 |
19 | g.4816955T>A | CA403489687 | TICAM1 | c.1423A>T (p.Ser475Cys) c.1006A>T (p.Ser336Cys) c.1381A>T (p.Ser461Cys) c.1288A>T (p.Ser430Cys) c.781A>T (p.Ser261Cys) | |
19 | g.4816955T>C | CA403489689 | TICAM1 | c.1423A>G (p.Ser475Gly) c.1006A>G (p.Ser336Gly) c.1381A>G (p.Ser461Gly) c.1288A>G (p.Ser430Gly) c.781A>G (p.Ser261Gly) | |
19 | g.4816955T>G | CA403489691 | TICAM1 | c.1423A>C (p.Ser475Arg) c.1006A>C (p.Ser336Arg) c.1381A>C (p.Ser461Arg) c.1288A>C (p.Ser430Arg) c.781A>C (p.Ser261Arg) | |
19 | g.4816956C>A | CA403489692 | TICAM1 | c.1422G>T (p.Met474Ile) c.1005G>T (p.Met335Ile) c.1380G>T (p.Met460Ile) c.1287G>T (p.Met429Ile) c.780G>T (p.Met260Ile) | |
19 | g.4816956C= | CA2319605091 | TICAM1 | c.1422G= (p.Met474=) c.1005G= (p.Met335=) c.1380G= (p.Met460=) c.1287G= (p.Met429=) c.780G= (p.Met260=) | |
19 | g.4816956C>G | CA403489693 | TICAM1 | c.1422G>C (p.Met474Ile) c.1005G>C (p.Met335Ile) c.1380G>C (p.Met460Ile) c.1287G>C (p.Met429Ile) c.780G>C (p.Met260Ile) | |
19 | g.4816956C>T | CA9105142 | TICAM1 | c.1422G>A (p.Met474Ile) c.1005G>A (p.Met335Ile) c.1380G>A (p.Met460Ile) c.1287G>A (p.Met429Ile) c.780G>A (p.Met260Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816957A= | CA2319605092 | TICAM1 | c.1421T= (p.Met474=) c.1004T= (p.Met335=) c.1379T= (p.Met460=) c.1286T= (p.Met429=) c.779T= (p.Met260=) | |
19 | g.4816957A>C | CA403489694 | TICAM1 | c.1421T>G (p.Met474Arg) c.1004T>G (p.Met335Arg) c.1379T>G (p.Met460Arg) c.1286T>G (p.Met429Arg) c.779T>G (p.Met260Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.4816957A>G | CA403489695 | TICAM1 | c.1421T>C (p.Met474Thr) c.1004T>C (p.Met335Thr) c.1379T>C (p.Met460Thr) c.1286T>C (p.Met429Thr) c.779T>C (p.Met260Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816957A>T | CA403489696 | TICAM1 | c.1421T>A (p.Met474Lys) c.1004T>A (p.Met335Lys) c.1379T>A (p.Met460Lys) c.1286T>A (p.Met429Lys) c.779T>A (p.Met260Lys) | |
19 | g.4816958T>A | CA403489697 | TICAM1 | c.1420A>T (p.Met474Leu) c.1003A>T (p.Met335Leu) c.1378A>T (p.Met460Leu) c.1285A>T (p.Met429Leu) c.778A>T (p.Met260Leu) | |
19 | g.4816958T>C | CA403489701 | TICAM1 | c.1420A>G (p.Met474Val) c.1003A>G (p.Met335Val) c.1378A>G (p.Met460Val) c.1285A>G (p.Met429Val) c.778A>G (p.Met260Val) | |
19 | g.4816958T>G | CA403489699 | TICAM1 | c.1420A>C (p.Met474Leu) c.1003A>C (p.Met335Leu) c.1378A>C (p.Met460Leu) c.1285A>C (p.Met429Leu) c.778A>C (p.Met260Leu) | |
19 | g.4816959C>A | CA403489702 | TICAM1 | c.1419G>T (p.Met473Ile) c.1002G>T (p.Met334Ile) c.1377G>T (p.Met459Ile) c.1284G>T (p.Met428Ile) c.777G>T (p.Met259Ile) | |
19 | g.4816959C= | CA2319605093 | TICAM1 | c.1419G= (p.Met473=) c.1002G= (p.Met334=) c.1377G= (p.Met459=) c.1284G= (p.Met428=) c.777G= (p.Met259=) | |
19 | g.4816959C>G | CA403489704 | TICAM1 | c.1419G>C (p.Met473Ile) c.1002G>C (p.Met334Ile) c.1377G>C (p.Met459Ile) c.1284G>C (p.Met428Ile) c.777G>C (p.Met259Ile) | |
19 | g.4816959C>T | CA9105143 | TICAM1 | c.1419G>A (p.Met473Ile) c.1002G>A (p.Met334Ile) c.1377G>A (p.Met459Ile) c.1284G>A (p.Met428Ile) c.777G>A (p.Met259Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.4816960A>C | CA403489708 | TICAM1 | c.1418T>G (p.Met473Arg) c.1001T>G (p.Met334Arg) c.1376T>G (p.Met459Arg) c.1283T>G (p.Met428Arg) c.776T>G (p.Met259Arg) | |
19 | g.4816960A>G | CA403489709 | TICAM1 | c.1418T>C (p.Met473Thr) c.1001T>C (p.Met334Thr) c.1376T>C (p.Met459Thr) c.1283T>C (p.Met428Thr) c.776T>C (p.Met259Thr) | |
19 | g.4816960A>T | CA403489710 | TICAM1 | c.1418T>A (p.Met473Lys) c.1001T>A (p.Met334Lys) c.1376T>A (p.Met459Lys) c.1283T>A (p.Met428Lys) c.776T>A (p.Met259Lys) | |
19 | g.4816961T>A | CA403489711 | TICAM1 | c.1417A>T (p.Met473Leu) c.1000A>T (p.Met334Leu) c.1375A>T (p.Met459Leu) c.1282A>T (p.Met428Leu) c.775A>T (p.Met259Leu) | |
19 | g.4816961T>C | CA403489713 | TICAM1 | c.1417A>G (p.Met473Val) c.1000A>G (p.Met334Val) c.1375A>G (p.Met459Val) c.1282A>G (p.Met428Val) c.775A>G (p.Met259Val) | dbSNP gnomAD v4 |
19 | g.4816961T>G | CA403489715 | TICAM1 | c.1417A>C (p.Met473Leu) c.1000A>C (p.Met334Leu) c.1375A>C (p.Met459Leu) c.1282A>C (p.Met428Leu) c.775A>C (p.Met259Leu) | |
19 | g.4816961T= | CA2319605094 | TICAM1 | c.1417A= (p.Met473=) c.1000A= (p.Met334=) c.1375A= (p.Met459=) c.1282A= (p.Met428=) c.775A= (p.Met259=) | |
19 | g.4816962G>A | CA505174238 | TICAM1 | c.1416C>T (p.Ala472=) c.999C>T (p.Ala333=) c.1374C>T (p.Ala458=) c.1281C>T (p.Ala427=) c.774C>T (p.Ala258=) | |
19 | g.4816962G>C | CA505174239 | TICAM1 | c.1416C>G (p.Ala472=) c.999C>G (p.Ala333=) c.1374C>G (p.Ala458=) c.1281C>G (p.Ala427=) c.774C>G (p.Ala258=) | |
19 | g.4816962G>T | CA505174241 | TICAM1 | c.1416C>A (p.Ala472=) c.999C>A (p.Ala333=) c.1374C>A (p.Ala458=) c.1281C>A (p.Ala427=) c.774C>A (p.Ala258=) | ClinVar |
19 | g.4816963G>A | CA403489720 | TICAM1 | c.1415C>T (p.Ala472Val) c.998C>T (p.Ala333Val) c.1373C>T (p.Ala458Val) c.1280C>T (p.Ala427Val) c.773C>T (p.Ala258Val) | |
19 | g.4816963G>C | CA403489722 | TICAM1 | c.1415C>G (p.Ala472Gly) c.998C>G (p.Ala333Gly) c.1373C>G (p.Ala458Gly) c.1280C>G (p.Ala427Gly) c.773C>G (p.Ala258Gly) | |
19 | g.4816963G>T | CA403489718 | TICAM1 | c.1415C>A (p.Ala472Asp) c.998C>A (p.Ala333Asp) c.1373C>A (p.Ala458Asp) c.1280C>A (p.Ala427Asp) c.773C>A (p.Ala258Asp) | |
19 | g.4816964C>A | CA403489725 | TICAM1 | c.1414G>T (p.Ala472Ser) c.997G>T (p.Ala333Ser) c.1372G>T (p.Ala458Ser) c.1279G>T (p.Ala427Ser) c.772G>T (p.Ala258Ser) | |
19 | g.4816964C= | CA2319605095 | TICAM1 | c.1414G= (p.Ala472=) c.997G= (p.Ala333=) c.1372G= (p.Ala458=) c.1279G= (p.Ala427=) c.772G= (p.Ala258=) | |
19 | g.4816964C>G | CA403489726 | TICAM1 | c.1414G>C (p.Ala472Pro) c.997G>C (p.Ala333Pro) c.1372G>C (p.Ala458Pro) c.1279G>C (p.Ala427Pro) c.772G>C (p.Ala258Pro) | |
19 | g.4816964C>T | CA9105144 | TICAM1 | c.1414G>A (p.Ala472Thr) c.997G>A (p.Ala333Thr) c.1372G>A (p.Ala458Thr) c.1279G>A (p.Ala427Thr) c.772G>A (p.Ala258Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816965T>A | CA403489730 | TICAM1 | c.1413A>T (p.Gln471His) c.996A>T (p.Gln332His) c.1371A>T (p.Gln457His) c.1278A>T (p.Gln426His) c.771A>T (p.Gln257His) | |
19 | g.4816965T>C | CA505174245 | TICAM1 | c.1413A>G (p.Gln471=) c.996A>G (p.Gln332=) c.1371A>G (p.Gln457=) c.1278A>G (p.Gln426=) c.771A>G (p.Gln257=) | |
19 | g.4816965T>G | CA403489731 | TICAM1 | c.1413A>C (p.Gln471His) c.996A>C (p.Gln332His) c.1371A>C (p.Gln457His) c.1278A>C (p.Gln426His) c.771A>C (p.Gln257His) | |
19 | g.4816966T>A | CA403489737 | TICAM1 | c.1412A>T (p.Gln471Leu) c.995A>T (p.Gln332Leu) c.1370A>T (p.Gln457Leu) c.1277A>T (p.Gln426Leu) c.770A>T (p.Gln257Leu) | |
19 | g.4816966T>C | CA403489735 | TICAM1 | c.1412A>G (p.Gln471Arg) c.995A>G (p.Gln332Arg) c.1370A>G (p.Gln457Arg) c.1277A>G (p.Gln426Arg) c.770A>G (p.Gln257Arg) | |
19 | g.4816966T>G | CA403489736 | TICAM1 | c.1412A>C (p.Gln471Pro) c.995A>C (p.Gln332Pro) c.1370A>C (p.Gln457Pro) c.1277A>C (p.Gln426Pro) c.770A>C (p.Gln257Pro) | |
19 | g.4816970_4816978del | CA2576579905 | TICAM1 | c.1404_1412del (p.Val469_Gln471del) c.987_995del (p.Val330_Gln332del) c.1362_1370del (p.Val455_Gln457del) c.1269_1277del (p.Val424_Gln426del) c.762_770del (p.Val255_Gln257del) | |
19 | g.4816967G>A | CA403489740 | TICAM1 | c.1411C>T (p.Gln471Ter) c.994C>T (p.Gln332Ter) c.1369C>T (p.Gln457Ter) c.1276C>T (p.Gln426Ter) c.769C>T (p.Gln257Ter) | |
19 | g.4816967G>C | CA403489741 | TICAM1 | c.1411C>G (p.Gln471Glu) c.994C>G (p.Gln332Glu) c.1369C>G (p.Gln457Glu) c.1276C>G (p.Gln426Glu) c.769C>G (p.Gln257Glu) | |
19 | g.4816967G>T | CA403489742 | TICAM1 | c.1411C>A (p.Gln471Lys) c.994C>A (p.Gln332Lys) c.1369C>A (p.Gln457Lys) c.1276C>A (p.Gln426Lys) c.769C>A (p.Gln257Lys) | |
19 | g.4816968G>A | CA304547468 | TICAM1 | c.1410C>T (p.Asn470=) c.993C>T (p.Asn331=) c.1368C>T (p.Asn456=) c.1275C>T (p.Asn425=) c.768C>T (p.Asn256=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816968G>C | CA403489745 | TICAM1 | c.1410C>G (p.Asn470Lys) c.993C>G (p.Asn331Lys) c.1368C>G (p.Asn456Lys) c.1275C>G (p.Asn425Lys) c.768C>G (p.Asn256Lys) | ClinVar dbSNP |
19 | g.4816968G= | CA2319605096 | TICAM1 | c.1410C= (p.Asn470=) c.993C= (p.Asn331=) c.1368C= (p.Asn456=) c.1275C= (p.Asn425=) c.768C= (p.Asn256=) | |
19 | g.4816968G>T | CA9105145 | TICAM1 | c.1410C>A (p.Asn470Lys) c.993C>A (p.Asn331Lys) c.1368C>A (p.Asn456Lys) c.1275C>A (p.Asn425Lys) c.768C>A (p.Asn256Lys) | dbSNP ExAC gnomAD v2 |
19 | g.4816969T>A | CA403489747 | TICAM1 | c.1409A>T (p.Asn470Ile) c.992A>T (p.Asn331Ile) c.1367A>T (p.Asn456Ile) c.1274A>T (p.Asn425Ile) c.767A>T (p.Asn256Ile) | |
19 | g.4816969T>C | CA403489751 | TICAM1 | c.1409A>G (p.Asn470Ser) c.992A>G (p.Asn331Ser) c.1367A>G (p.Asn456Ser) c.1274A>G (p.Asn425Ser) c.767A>G (p.Asn256Ser) | gnomAD v4 |
19 | g.4816969T>G | CA403489749 | TICAM1 | c.1409A>C (p.Asn470Thr) c.992A>C (p.Asn331Thr) c.1367A>C (p.Asn456Thr) c.1274A>C (p.Asn425Thr) c.767A>C (p.Asn256Thr) | |
19 | g.4816970T>A | CA403489752 | TICAM1 | c.1408A>T (p.Asn470Tyr) c.991A>T (p.Asn331Tyr) c.1366A>T (p.Asn456Tyr) c.1273A>T (p.Asn425Tyr) c.766A>T (p.Asn256Tyr) | |
19 | g.4816970T>C | CA403489753 | TICAM1 | c.1408A>G (p.Asn470Asp) c.991A>G (p.Asn331Asp) c.1366A>G (p.Asn456Asp) c.1273A>G (p.Asn425Asp) c.766A>G (p.Asn256Asp) | |
19 | g.4816970T>G | CA403489754 | TICAM1 | c.1408A>C (p.Asn470His) c.991A>C (p.Asn331His) c.1366A>C (p.Asn456His) c.1273A>C (p.Asn425His) c.766A>C (p.Asn256His) | |
19 | g.4816971C>A | CA505174255 | TICAM1 | c.1407G>T (p.Val469=) c.990G>T (p.Val330=) c.1365G>T (p.Val455=) c.1272G>T (p.Val424=) c.765G>T (p.Val255=) | |
19 | g.4816971C>G | CA505174257 | TICAM1 | c.1407G>C (p.Val469=) c.990G>C (p.Val330=) c.1365G>C (p.Val455=) c.1272G>C (p.Val424=) c.765G>C (p.Val255=) | |
19 | g.4816971C>T | CA505174256 | TICAM1 | c.1407G>A (p.Val469=) c.990G>A (p.Val330=) c.1365G>A (p.Val455=) c.1272G>A (p.Val424=) c.765G>A (p.Val255=) | |
19 | g.4816972A>C | CA403489756 | TICAM1 | c.1406T>G (p.Val469Gly) c.989T>G (p.Val330Gly) c.1364T>G (p.Val455Gly) c.1271T>G (p.Val424Gly) c.764T>G (p.Val255Gly) | |
19 | g.4816972A>G | CA403489757 | TICAM1 | c.1406T>C (p.Val469Ala) c.989T>C (p.Val330Ala) c.1364T>C (p.Val455Ala) c.1271T>C (p.Val424Ala) c.764T>C (p.Val255Ala) | |
19 | g.4816972A>T | CA403489758 | TICAM1 | c.1406T>A (p.Val469Glu) c.989T>A (p.Val330Glu) c.1364T>A (p.Val455Glu) c.1271T>A (p.Val424Glu) c.764T>A (p.Val255Glu) | |
19 | g.4816973C>A | CA403489761 | TICAM1 | c.1405G>T (p.Val469Leu) c.988G>T (p.Val330Leu) c.1363G>T (p.Val455Leu) c.1270G>T (p.Val424Leu) c.763G>T (p.Val255Leu) | |
19 | g.4816973C= | CA2319605097 | TICAM1 | c.1405G= (p.Val469=) c.988G= (p.Val330=) c.1363G= (p.Val455=) c.1270G= (p.Val424=) c.763G= (p.Val255=) | |
19 | g.4816973C>G | CA403489762 | TICAM1 | c.1405G>C (p.Val469Leu) c.988G>C (p.Val330Leu) c.1363G>C (p.Val455Leu) c.1270G>C (p.Val424Leu) c.763G>C (p.Val255Leu) | |
19 | g.4816973C>T | CA304547477 | TICAM1 | c.1405G>A (p.Val469Met) c.988G>A (p.Val330Met) c.1363G>A (p.Val455Met) c.1270G>A (p.Val424Met) c.763G>A (p.Val255Met) | dbSNP gnomAD v4 |
19 | g.4816974C>A | CA403489766 | TICAM1 | c.1404G>T (p.Gln468His) c.987G>T (p.Gln329His) c.1362G>T (p.Gln454His) c.1269G>T (p.Gln423His) c.762G>T (p.Gln254His) | |
19 | g.4816974C>G | CA403489767 | TICAM1 | c.1404G>C (p.Gln468His) c.987G>C (p.Gln329His) c.1362G>C (p.Gln454His) c.1269G>C (p.Gln423His) c.762G>C (p.Gln254His) | gnomAD v4 |
19 | g.4816974C>T | CA505174261 | TICAM1 | c.1404G>A (p.Gln468=) c.987G>A (p.Gln329=) c.1362G>A (p.Gln454=) c.1269G>A (p.Gln423=) c.762G>A (p.Gln254=) | |
19 | g.4816975T>A | CA403489772 | TICAM1 | c.1403A>T (p.Gln468Leu) c.986A>T (p.Gln329Leu) c.1361A>T (p.Gln454Leu) c.1268A>T (p.Gln423Leu) c.761A>T (p.Gln254Leu) | |
19 | g.4816975T>C | CA403489773 | TICAM1 | c.1403A>G (p.Gln468Arg) c.986A>G (p.Gln329Arg) c.1361A>G (p.Gln454Arg) c.1268A>G (p.Gln423Arg) c.761A>G (p.Gln254Arg) | |
19 | g.4816975T>G | CA403489770 | TICAM1 | c.1403A>C (p.Gln468Pro) c.986A>C (p.Gln329Pro) c.1361A>C (p.Gln454Pro) c.1268A>C (p.Gln423Pro) c.761A>C (p.Gln254Pro) | |
19 | g.4816976G>A | CA403489775 | TICAM1 | c.1402C>T (p.Gln468Ter) c.985C>T (p.Gln329Ter) c.1360C>T (p.Gln454Ter) c.1267C>T (p.Gln423Ter) c.760C>T (p.Gln254Ter) | dbSNP |
19 | g.4816976G>C | CA403489777 | TICAM1 | c.1402C>G (p.Gln468Glu) c.985C>G (p.Gln329Glu) c.1360C>G (p.Gln454Glu) c.1267C>G (p.Gln423Glu) c.760C>G (p.Gln254Glu) | dbSNP |
19 | g.4816976G= | CA2319605098 | TICAM1 | c.1402C= (p.Gln468=) c.985C= (p.Gln329=) c.1360C= (p.Gln454=) c.1267C= (p.Gln423=) c.760C= (p.Gln254=) | |
19 | g.4816976G>T | CA403489779 | TICAM1 | c.1402C>A (p.Gln468Lys) c.985C>A (p.Gln329Lys) c.1360C>A (p.Gln454Lys) c.1267C>A (p.Gln423Lys) c.760C>A (p.Gln254Lys) | |
19 | g.4816977G>A | CA505174265 | TICAM1 | c.1401C>T (p.His467=) c.984C>T (p.His328=) c.1359C>T (p.His453=) c.1266C>T (p.His422=) c.759C>T (p.His253=) | |
19 | g.4816977G>C | CA403489781 | TICAM1 | c.1401C>G (p.His467Gln) c.984C>G (p.His328Gln) c.1359C>G (p.His453Gln) c.1266C>G (p.His422Gln) c.759C>G (p.His253Gln) | |
19 | g.4816977G= | CA2319605099 | TICAM1 | c.1401C= (p.His467=) c.984C= (p.His328=) c.1359C= (p.His453=) c.1266C= (p.His422=) c.759C= (p.His253=) | |
19 | g.4816977G>T | CA9105146 | TICAM1 | c.1401C>A (p.His467Gln) c.984C>A (p.His328Gln) c.1359C>A (p.His453Gln) c.1266C>A (p.His422Gln) c.759C>A (p.His253Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816978T>A | CA403489785 | TICAM1 | c.1400A>T (p.His467Leu) c.983A>T (p.His328Leu) c.1358A>T (p.His453Leu) c.1265A>T (p.His422Leu) c.758A>T (p.His253Leu) | |
19 | g.4816978T>C | CA403489786 | TICAM1 | c.1400A>G (p.His467Arg) c.983A>G (p.His328Arg) c.1358A>G (p.His453Arg) c.1265A>G (p.His422Arg) c.758A>G (p.His253Arg) | |
19 | g.4816978T>G | CA403489787 | TICAM1 | c.1400A>C (p.His467Pro) c.983A>C (p.His328Pro) c.1358A>C (p.His453Pro) c.1265A>C (p.His422Pro) c.758A>C (p.His253Pro) | dbSNP |
19 | g.4816978T= | CA2319605100 | TICAM1 | c.1400A= (p.His467=) c.983A= (p.His328=) c.1358A= (p.His453=) c.1265A= (p.His422=) c.758A= (p.His253=) | |
19 | g.4816979G>A | CA403489789 | TICAM1 | c.1399C>T (p.His467Tyr) c.982C>T (p.His328Tyr) c.1357C>T (p.His453Tyr) c.1264C>T (p.His422Tyr) c.757C>T (p.His253Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816979G>C | CA403489791 | TICAM1 | c.1399C>G (p.His467Asp) c.982C>G (p.His328Asp) c.1357C>G (p.His453Asp) c.1264C>G (p.His422Asp) c.757C>G (p.His253Asp) | |
19 | g.4816979G= | CA2319605101 | TICAM1 | c.1399C= (p.His467=) c.982C= (p.His328=) c.1357C= (p.His453=) c.1264C= (p.His422=) c.757C= (p.His253=) | |
19 | g.4816979G>T | CA403489792 | TICAM1 | c.1399C>A (p.His467Asn) c.982C>A (p.His328Asn) c.1357C>A (p.His453Asn) c.1264C>A (p.His422Asn) c.757C>A (p.His253Asn) | |
19 | g.4816980C>A | CA505174270 | TICAM1 | c.1398G>T (p.Leu466=) c.981G>T (p.Leu327=) c.1356G>T (p.Leu452=) c.1263G>T (p.Leu421=) c.756G>T (p.Leu252=) | dbSNP |
19 | g.4816980C= | CA2319605102 | TICAM1 | c.1398G= (p.Leu466=) c.981G= (p.Leu327=) c.1356G= (p.Leu452=) c.1263G= (p.Leu421=) c.756G= (p.Leu252=) | |
19 | g.4816980C>G | CA505174271 | TICAM1 | c.1398G>C (p.Leu466=) c.981G>C (p.Leu327=) c.1356G>C (p.Leu452=) c.1263G>C (p.Leu421=) c.756G>C (p.Leu252=) | gnomAD v4 |
19 | g.4816980C>T | CA505174272 | TICAM1 | c.1398G>A (p.Leu466=) c.981G>A (p.Leu327=) c.1356G>A (p.Leu452=) c.1263G>A (p.Leu421=) c.756G>A (p.Leu252=) | |
19 | g.4816981A>C | CA403489794 | TICAM1 | c.1397T>G (p.Leu466Arg) c.980T>G (p.Leu327Arg) c.1355T>G (p.Leu452Arg) c.1262T>G (p.Leu421Arg) c.755T>G (p.Leu252Arg) | |
19 | g.4816981A>G | CA403489796 | TICAM1 | c.1397T>C (p.Leu466Pro) c.980T>C (p.Leu327Pro) c.1355T>C (p.Leu452Pro) c.1262T>C (p.Leu421Pro) c.755T>C (p.Leu252Pro) | |
19 | g.4816981A>T | CA403489798 | TICAM1 | c.1397T>A (p.Leu466Gln) c.980T>A (p.Leu327Gln) c.1355T>A (p.Leu452Gln) c.1262T>A (p.Leu421Gln) c.755T>A (p.Leu252Gln) | |
19 | g.4816982G>A | CA505174274 | TICAM1 | c.1396C>T (p.Leu466=) c.979C>T (p.Leu327=) c.1354C>T (p.Leu452=) c.1261C>T (p.Leu421=) c.754C>T (p.Leu252=) | gnomAD v4 |
19 | g.4816982G>C | CA403489801 | TICAM1 | c.1396C>G (p.Leu466Val) c.979C>G (p.Leu327Val) c.1354C>G (p.Leu452Val) c.1261C>G (p.Leu421Val) c.754C>G (p.Leu252Val) | |
19 | g.4816982G>T | CA403489802 | TICAM1 | c.1396C>A (p.Leu466Met) c.979C>A (p.Leu327Met) c.1354C>A (p.Leu452Met) c.1261C>A (p.Leu421Met) c.754C>A (p.Leu252Met) | |
19 | g.4816983G>A | CA505174276 | TICAM1 | c.1395C>T (p.Ser465=) c.978C>T (p.Ser326=) c.1353C>T (p.Ser451=) c.1260C>T (p.Ser420=) c.753C>T (p.Ser251=) | |
19 | g.4816983G>C | CA403489804 | TICAM1 | c.1395C>G (p.Ser465Arg) c.978C>G (p.Ser326Arg) c.1353C>G (p.Ser451Arg) c.1260C>G (p.Ser420Arg) c.753C>G (p.Ser251Arg) | gnomAD v4 |
19 | g.4816983G>T | CA403489806 | TICAM1 | c.1395C>A (p.Ser465Arg) c.978C>A (p.Ser326Arg) c.1353C>A (p.Ser451Arg) c.1260C>A (p.Ser420Arg) c.753C>A (p.Ser251Arg) | |
19 | g.4816984C>A | CA403489807 | TICAM1 | c.1394G>T (p.Ser465Ile) c.977G>T (p.Ser326Ile) c.1352G>T (p.Ser451Ile) c.1259G>T (p.Ser420Ile) c.752G>T (p.Ser251Ile) | |
19 | g.4816984C>G | CA403489808 | TICAM1 | c.1394G>C (p.Ser465Thr) c.977G>C (p.Ser326Thr) c.1352G>C (p.Ser451Thr) c.1259G>C (p.Ser420Thr) c.752G>C (p.Ser251Thr) | |
19 | g.4816984C>T | CA403489809 | TICAM1 | c.1394G>A (p.Ser465Asn) c.977G>A (p.Ser326Asn) c.1352G>A (p.Ser451Asn) c.1259G>A (p.Ser420Asn) c.752G>A (p.Ser251Asn) | |
19 | g.4816985T>A | CA403489811 | TICAM1 | c.1393A>T (p.Ser465Cys) c.976A>T (p.Ser326Cys) c.1351A>T (p.Ser451Cys) c.1258A>T (p.Ser420Cys) c.751A>T (p.Ser251Cys) | |
19 | g.4816985T>C | CA403489813 | TICAM1 | c.1393A>G (p.Ser465Gly) c.976A>G (p.Ser326Gly) c.1351A>G (p.Ser451Gly) c.1258A>G (p.Ser420Gly) c.751A>G (p.Ser251Gly) | |
19 | g.4816985T>G | CA403489814 | TICAM1 | c.1393A>C (p.Ser465Arg) c.976A>C (p.Ser326Arg) c.1351A>C (p.Ser451Arg) c.1258A>C (p.Ser420Arg) c.751A>C (p.Ser251Arg) | |
19 | g.4816986C>A | CA505174279 | TICAM1 | c.1392G>T (p.Leu464=) c.975G>T (p.Leu325=) c.1350G>T (p.Leu450=) c.1257G>T (p.Leu419=) c.750G>T (p.Leu250=) | |
19 | g.4816986C>G | CA505174278 | TICAM1 | c.1392G>C (p.Leu464=) c.975G>C (p.Leu325=) c.1350G>C (p.Leu450=) c.1257G>C (p.Leu419=) c.750G>C (p.Leu250=) | |
19 | g.4816986C>T | CA505174277 | TICAM1 | c.1392G>A (p.Leu464=) c.975G>A (p.Leu325=) c.1350G>A (p.Leu450=) c.1257G>A (p.Leu419=) c.750G>A (p.Leu250=) | |
19 | g.4816987A>C | CA403489817 | TICAM1 | c.1391T>G (p.Leu464Arg) c.974T>G (p.Leu325Arg) c.1349T>G (p.Leu450Arg) c.1256T>G (p.Leu419Arg) c.749T>G (p.Leu250Arg) | |
19 | g.4816987A>G | CA403489819 | TICAM1 | c.1391T>C (p.Leu464Pro) c.974T>C (p.Leu325Pro) c.1349T>C (p.Leu450Pro) c.1256T>C (p.Leu419Pro) c.749T>C (p.Leu250Pro) | gnomAD v4 |
19 | g.4816987A>T | CA403489820 | TICAM1 | c.1391T>A (p.Leu464Gln) c.974T>A (p.Leu325Gln) c.1349T>A (p.Leu450Gln) c.1256T>A (p.Leu419Gln) c.749T>A (p.Leu250Gln) | |
19 | g.4816988G>A | CA505174280 | TICAM1 | c.1390C>T (p.Leu464=) c.973C>T (p.Leu325=) c.1348C>T (p.Leu450=) c.1255C>T (p.Leu419=) c.748C>T (p.Leu250=) | |
19 | g.4816988G>C | CA403489821 | TICAM1 | c.1390C>G (p.Leu464Val) c.973C>G (p.Leu325Val) c.1348C>G (p.Leu450Val) c.1255C>G (p.Leu419Val) c.748C>G (p.Leu250Val) | gnomAD v4 |
19 | g.4816988G>T | CA403489823 | TICAM1 | c.1390C>A (p.Leu464Met) c.973C>A (p.Leu325Met) c.1348C>A (p.Leu450Met) c.1255C>A (p.Leu419Met) c.748C>A (p.Leu250Met) | |
19 | g.4816989G>A | CA505174281 | TICAM1 | c.1389C>T (p.Arg463=) c.972C>T (p.Arg324=) c.1347C>T (p.Arg449=) c.1254C>T (p.Arg418=) c.747C>T (p.Arg249=) | gnomAD v4 |
19 | g.4816989G>C | CA505174282 | TICAM1 | c.1389C>G (p.Arg463=) c.972C>G (p.Arg324=) c.1347C>G (p.Arg449=) c.1254C>G (p.Arg418=) c.747C>G (p.Arg249=) | |
19 | g.4816989G>T | CA505174284 | TICAM1 | c.1389C>A (p.Arg463=) c.972C>A (p.Arg324=) c.1347C>A (p.Arg449=) c.1254C>A (p.Arg418=) c.747C>A (p.Arg249=) | |
19 | g.4816990C>A | CA403489825 | TICAM1 | c.1388G>T (p.Arg463Leu) c.971G>T (p.Arg324Leu) c.1346G>T (p.Arg449Leu) c.1253G>T (p.Arg418Leu) c.746G>T (p.Arg249Leu) | |
19 | g.4816990C= | CA2319605103 | TICAM1 | c.1388G= (p.Arg463=) c.971G= (p.Arg324=) c.1346G= (p.Arg449=) c.1253G= (p.Arg418=) c.746G= (p.Arg249=) | |
19 | g.4816990C>G | CA403489829 | TICAM1 | c.1388G>C (p.Arg463Pro) c.971G>C (p.Arg324Pro) c.1346G>C (p.Arg449Pro) c.1253G>C (p.Arg418Pro) c.746G>C (p.Arg249Pro) | |
19 | g.4816990C>T | CA403489827 | TICAM1 | c.1388G>A (p.Arg463His) c.971G>A (p.Arg324His) c.1346G>A (p.Arg449His) c.1253G>A (p.Arg418His) c.746G>A (p.Arg249His) | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.4816991G>A | CA403489831 | TICAM1 | c.1387C>T (p.Arg463Cys) c.970C>T (p.Arg324Cys) c.1345C>T (p.Arg449Cys) c.1252C>T (p.Arg418Cys) c.745C>T (p.Arg249Cys) | dbSNP |
19 | g.4816991G>C | CA403489833 | TICAM1 | c.1387C>G (p.Arg463Gly) c.970C>G (p.Arg324Gly) c.1345C>G (p.Arg449Gly) c.1252C>G (p.Arg418Gly) c.745C>G (p.Arg249Gly) | dbSNP |
19 | g.4816991G= | CA2319605104 | TICAM1 | c.1387C= (p.Arg463=) c.970C= (p.Arg324=) c.1345C= (p.Arg449=) c.1252C= (p.Arg418=) c.745C= (p.Arg249=) | |
19 | g.4816991G>T | CA403489835 | TICAM1 | c.1387C>A (p.Arg463Ser) c.970C>A (p.Arg324Ser) c.1345C>A (p.Arg449Ser) c.1252C>A (p.Arg418Ser) c.745C>A (p.Arg249Ser) | |
19 | g.4816992A>C | CA403489837 | TICAM1 | c.1386T>G (p.Cys462Trp) c.969T>G (p.Cys323Trp) c.1344T>G (p.Cys448Trp) c.1251T>G (p.Cys417Trp) c.744T>G (p.Cys248Trp) | |
19 | g.4816992A>G | CA505174289 | TICAM1 | c.1386T>C (p.Cys462=) c.969T>C (p.Cys323=) c.1344T>C (p.Cys448=) c.1251T>C (p.Cys417=) c.744T>C (p.Cys248=) | |
19 | g.4816992A>T | CA403489839 | TICAM1 | c.1386T>A (p.Cys462Ter) c.969T>A (p.Cys323Ter) c.1344T>A (p.Cys448Ter) c.1251T>A (p.Cys417Ter) c.744T>A (p.Cys248Ter) | |
19 | g.4816993C>A | CA403489845 | TICAM1 | c.1385G>T (p.Cys462Phe) c.968G>T (p.Cys323Phe) c.1343G>T (p.Cys448Phe) c.1250G>T (p.Cys417Phe) c.743G>T (p.Cys248Phe) | |
19 | g.4816993C>G | CA403489843 | TICAM1 | c.1385G>C (p.Cys462Ser) c.968G>C (p.Cys323Ser) c.1343G>C (p.Cys448Ser) c.1250G>C (p.Cys417Ser) c.743G>C (p.Cys248Ser) | |
19 | g.4816993C>T | CA403489842 | TICAM1 | c.1385G>A (p.Cys462Tyr) c.968G>A (p.Cys323Tyr) c.1343G>A (p.Cys448Tyr) c.1250G>A (p.Cys417Tyr) c.743G>A (p.Cys248Tyr) | |
19 | g.4816994A= | CA2319605105 | TICAM1 | c.1384T= (p.Cys462=) c.967T= (p.Cys323=) c.1342T= (p.Cys448=) c.1249T= (p.Cys417=) c.742T= (p.Cys248=) | |
19 | g.4816994A>C | CA403489848 | TICAM1 | c.1384T>G (p.Cys462Gly) c.967T>G (p.Cys323Gly) c.1342T>G (p.Cys448Gly) c.1249T>G (p.Cys417Gly) c.742T>G (p.Cys248Gly) | |
19 | g.4816994A>G | CA403489850 | TICAM1 | c.1384T>C (p.Cys462Arg) c.967T>C (p.Cys323Arg) c.1342T>C (p.Cys448Arg) c.1249T>C (p.Cys417Arg) c.742T>C (p.Cys248Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816994A>T | CA403489852 | TICAM1 | c.1384T>A (p.Cys462Ser) c.967T>A (p.Cys323Ser) c.1342T>A (p.Cys448Ser) c.1249T>A (p.Cys417Ser) c.742T>A (p.Cys248Ser) | |
19 | g.4816994_4817001delinsAGTCGAAG | CA2319605106 | TICAM1 | c.1377_1384delinsCTTCGACT (p.Asn459=) c.960_967delinsCTTCGACT (p.Asn320=) c.1335_1342delinsCTTCGACT (p.Asn445=) c.1242_1249delinsCTTCGACT (p.Asn414=) c.735_742delinsCTTCGACT (p.Asn245=) | |
19 | g.4816995G>A | CA505174293 | TICAM1 | c.1383C>T (p.Asp461=) c.966C>T (p.Asp322=) c.1341C>T (p.Asp447=) c.1248C>T (p.Asp416=) c.741C>T (p.Asp247=) | |
19 | g.4816995G>C | CA403489855 | TICAM1 | c.1383C>G (p.Asp461Glu) c.966C>G (p.Asp322Glu) c.1341C>G (p.Asp447Glu) c.1248C>G (p.Asp416Glu) c.741C>G (p.Asp247Glu) | |
19 | g.4816995G>T | CA403489856 | TICAM1 | c.1383C>A (p.Asp461Glu) c.966C>A (p.Asp322Glu) c.1341C>A (p.Asp447Glu) c.1248C>A (p.Asp416Glu) c.741C>A (p.Asp247Glu) | |
19 | g.4816995_4817001del | CA9105147 | TICAM1 | c.1377_1383del (p.Phe460ValfsTer3) c.960_966del (p.Phe321ValfsTer3) c.1335_1341del (p.Phe446ValfsTer3) c.1242_1248del (p.Phe415ValfsTer3) c.735_741del (p.Phe246ValfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4816996T>A | CA403489859 | TICAM1 | c.1382A>T (p.Asp461Val) c.965A>T (p.Asp322Val) c.1340A>T (p.Asp447Val) c.1247A>T (p.Asp416Val) c.740A>T (p.Asp247Val) | |
19 | g.4816996T>C | CA403489865 | TICAM1 | c.1382A>G (p.Asp461Gly) c.965A>G (p.Asp322Gly) c.1340A>G (p.Asp447Gly) c.1247A>G (p.Asp416Gly) c.740A>G (p.Asp247Gly) | |
19 | g.4816996T>G | CA403489861 | TICAM1 | c.1382A>C (p.Asp461Ala) c.965A>C (p.Asp322Ala) c.1340A>C (p.Asp447Ala) c.1247A>C (p.Asp416Ala) c.740A>C (p.Asp247Ala) | gnomAD v4 |
19 | g.4816997C>A | CA403489868 | TICAM1 | c.1381G>T (p.Asp461Tyr) c.964G>T (p.Asp322Tyr) c.1339G>T (p.Asp447Tyr) c.1246G>T (p.Asp416Tyr) c.739G>T (p.Asp247Tyr) | |
19 | g.4816997C= | CA2319605107 | TICAM1 | c.1381G= (p.Asp461=) c.964G= (p.Asp322=) c.1339G= (p.Asp447=) c.1246G= (p.Asp416=) c.739G= (p.Asp247=) | |
19 | g.4816997C>G | CA403489869 | TICAM1 | c.1381G>C (p.Asp461His) c.964G>C (p.Asp322His) c.1339G>C (p.Asp447His) c.1246G>C (p.Asp416His) c.739G>C (p.Asp247His) | COSMIC |
19 | g.4816997C>T | CA403489871 | TICAM1 | c.1381G>A (p.Asp461Asn) c.964G>A (p.Asp322Asn) c.1339G>A (p.Asp447Asn) c.1246G>A (p.Asp416Asn) c.739G>A (p.Asp247Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.4816998G>A | CA505174301 | TICAM1 | c.1380C>T (p.Phe460=) c.963C>T (p.Phe321=) c.1338C>T (p.Phe446=) c.1245C>T (p.Phe415=) c.738C>T (p.Phe246=) | dbSNP COSMIC |
19 | g.4816998G>C | CA403489873 | TICAM1 | c.1380C>G (p.Phe460Leu) c.963C>G (p.Phe321Leu) c.1338C>G (p.Phe446Leu) c.1245C>G (p.Phe415Leu) c.738C>G (p.Phe246Leu) | |
19 | g.4816998G= | CA2319605108 | TICAM1 | c.1380C= (p.Phe460=) c.963C= (p.Phe321=) c.1338C= (p.Phe446=) c.1245C= (p.Phe415=) c.738C= (p.Phe246=) | |
19 | g.4816998G>T | CA304547500 | TICAM1 | c.1380C>A (p.Phe460Leu) c.963C>A (p.Phe321Leu) c.1338C>A (p.Phe446Leu) c.1245C>A (p.Phe415Leu) c.738C>A (p.Phe246Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4816999A>C | CA403489877 | TICAM1 | c.1379T>G (p.Phe460Cys) c.962T>G (p.Phe321Cys) c.1337T>G (p.Phe446Cys) c.1244T>G (p.Phe415Cys) c.737T>G (p.Phe246Cys) | gnomAD v4 |
19 | g.4816999A>G | CA403489879 | TICAM1 | c.1379T>C (p.Phe460Ser) c.962T>C (p.Phe321Ser) c.1337T>C (p.Phe446Ser) c.1244T>C (p.Phe415Ser) c.737T>C (p.Phe246Ser) | |
19 | g.4816999A>T | CA403489880 | TICAM1 | c.1379T>A (p.Phe460Tyr) c.962T>A (p.Phe321Tyr) c.1337T>A (p.Phe446Tyr) c.1244T>A (p.Phe415Tyr) c.737T>A (p.Phe246Tyr) | |
19 | g.4817000dup | CA2586031839 | TICAM1 | c.1379dup (p.Asp461ArgfsTer?) c.962dup (p.Asp322ArgfsTer?) c.1337dup (p.Asp447ArgfsTer?) c.1244dup (p.Asp416ArgfsTer?) c.737dup (p.Asp247ArgfsTer?) | gnomAD v4 |
19 | g.4817000A>C | CA403489883 | TICAM1 | c.1378T>G (p.Phe460Val) c.961T>G (p.Phe321Val) c.1336T>G (p.Phe446Val) c.1243T>G (p.Phe415Val) c.736T>G (p.Phe246Val) | |
19 | g.4817000A>G | CA403489885 | TICAM1 | c.1378T>C (p.Phe460Leu) c.961T>C (p.Phe321Leu) c.1336T>C (p.Phe446Leu) c.1243T>C (p.Phe415Leu) c.736T>C (p.Phe246Leu) | |
19 | g.4817000A>T | CA403489886 | TICAM1 | c.1378T>A (p.Phe460Ile) c.961T>A (p.Phe321Ile) c.1336T>A (p.Phe446Ile) c.1243T>A (p.Phe415Ile) c.736T>A (p.Phe246Ile) | |
19 | g.4817001G>A | CA505174304 | TICAM1 | c.1377C>T (p.Asn459=) c.960C>T (p.Asn320=) c.1335C>T (p.Asn445=) c.1242C>T (p.Asn414=) c.735C>T (p.Asn245=) | |
19 | g.4817001G>C | CA403489888 | TICAM1 | c.1377C>G (p.Asn459Lys) c.960C>G (p.Asn320Lys) c.1335C>G (p.Asn445Lys) c.1242C>G (p.Asn414Lys) c.735C>G (p.Asn245Lys) | |
19 | g.4817001G>T | CA403489889 | TICAM1 | c.1377C>A (p.Asn459Lys) c.960C>A (p.Asn320Lys) c.1335C>A (p.Asn445Lys) c.1242C>A (p.Asn414Lys) c.735C>A (p.Asn245Lys) | |
19 | g.4817002T>A | CA403489891 | TICAM1 | c.1376A>T (p.Asn459Ile) c.959A>T (p.Asn320Ile) c.1334A>T (p.Asn445Ile) c.1241A>T (p.Asn414Ile) c.734A>T (p.Asn245Ile) | |
19 | g.4817002T>C | CA9105148 | TICAM1 | c.1376A>G (p.Asn459Ser) c.959A>G (p.Asn320Ser) c.1334A>G (p.Asn445Ser) c.1241A>G (p.Asn414Ser) c.734A>G (p.Asn245Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4817002T>G | CA403489893 | TICAM1 | c.1376A>C (p.Asn459Thr) c.959A>C (p.Asn320Thr) c.1334A>C (p.Asn445Thr) c.1241A>C (p.Asn414Thr) c.734A>C (p.Asn245Thr) | gnomAD v4 |
19 | g.4817002T= | CA2319605109 | TICAM1 | c.1376A= (p.Asn459=) c.959A= (p.Asn320=) c.1334A= (p.Asn445=) c.1241A= (p.Asn414=) c.734A= (p.Asn245=) | |
19 | g.4817003T>A | CA403489897 | TICAM1 | c.1375A>T (p.Asn459Tyr) c.958A>T (p.Asn320Tyr) c.1333A>T (p.Asn445Tyr) c.1240A>T (p.Asn414Tyr) c.733A>T (p.Asn245Tyr) | |
19 | g.4817003T>C | CA403489900 | TICAM1 | c.1375A>G (p.Asn459Asp) c.958A>G (p.Asn320Asp) c.1333A>G (p.Asn445Asp) c.1240A>G (p.Asn414Asp) c.733A>G (p.Asn245Asp) | |
19 | g.4817003T>G | CA403489899 | TICAM1 | c.1375A>C (p.Asn459His) c.958A>C (p.Asn320His) c.1333A>C (p.Asn445His) c.1240A>C (p.Asn414His) c.733A>C (p.Asn245His) | |
19 | g.4817004G>A | CA505174310 | TICAM1 | c.1374C>T (p.Ser458=) c.957C>T (p.Ser319=) c.1332C>T (p.Ser444=) c.1239C>T (p.Ser413=) c.732C>T (p.Ser244=) | |
19 | g.4817004G>C | CA505174311 | TICAM1 | c.1374C>G (p.Ser458=) c.957C>G (p.Ser319=) c.1332C>G (p.Ser444=) c.1239C>G (p.Ser413=) c.732C>G (p.Ser244=) | |
19 | g.4817004G>T | CA505174312 | TICAM1 | c.1374C>A (p.Ser458=) c.957C>A (p.Ser319=) c.1332C>A (p.Ser444=) c.1239C>A (p.Ser413=) c.732C>A (p.Ser244=) | |
19 | g.4817005G>A | CA403489903 | TICAM1 | c.1373C>T (p.Ser458Phe) c.956C>T (p.Ser319Phe) c.1331C>T (p.Ser444Phe) c.1238C>T (p.Ser413Phe) c.731C>T (p.Ser244Phe) | |
19 | g.4817005G>C | CA403489904 | TICAM1 | c.1373C>G (p.Ser458Cys) c.956C>G (p.Ser319Cys) c.1331C>G (p.Ser444Cys) c.1238C>G (p.Ser413Cys) c.731C>G (p.Ser244Cys) | |
19 | g.4817005G>T | CA403489906 | TICAM1 | c.1373C>A (p.Ser458Tyr) c.956C>A (p.Ser319Tyr) c.1331C>A (p.Ser444Tyr) c.1238C>A (p.Ser413Tyr) c.731C>A (p.Ser244Tyr) | |
19 | g.4817006A>C | CA403489909 | TICAM1 | c.1372T>G (p.Ser458Ala) c.955T>G (p.Ser319Ala) c.1330T>G (p.Ser444Ala) c.1237T>G (p.Ser413Ala) c.730T>G (p.Ser244Ala) | |
19 | g.4817006A>G | CA403489910 | TICAM1 | c.1372T>C (p.Ser458Pro) c.955T>C (p.Ser319Pro) c.1330T>C (p.Ser444Pro) c.1237T>C (p.Ser413Pro) c.730T>C (p.Ser244Pro) | |
19 | g.4817006A>T | CA403489912 | TICAM1 | c.1372T>A (p.Ser458Thr) c.955T>A (p.Ser319Thr) c.1330T>A (p.Ser444Thr) c.1237T>A (p.Ser413Thr) c.730T>A (p.Ser244Thr) | |
19 | g.4817007G>A | CA505174316 | TICAM1 | c.1371C>T (p.Thr457=) c.954C>T (p.Thr318=) c.1329C>T (p.Thr443=) c.1236C>T (p.Thr412=) c.729C>T (p.Thr243=) | |
19 | g.4817007G>C | CA505174317 | TICAM1 | c.1371C>G (p.Thr457=) c.954C>G (p.Thr318=) c.1329C>G (p.Thr443=) c.1236C>G (p.Thr412=) c.729C>G (p.Thr243=) | |
19 | g.4817007G>T | CA505174318 | TICAM1 | c.1371C>A (p.Thr457=) c.954C>A (p.Thr318=) c.1329C>A (p.Thr443=) c.1236C>A (p.Thr412=) c.729C>A (p.Thr243=) | |
19 | g.4817008G>A | CA403489915 | TICAM1 | c.1370C>T (p.Thr457Ile) c.953C>T (p.Thr318Ile) c.1328C>T (p.Thr443Ile) c.1235C>T (p.Thr412Ile) c.728C>T (p.Thr243Ile) | |
19 | g.4817008G>C | CA403489916 | TICAM1 | c.1370C>G (p.Thr457Ser) c.953C>G (p.Thr318Ser) c.1328C>G (p.Thr443Ser) c.1235C>G (p.Thr412Ser) c.728C>G (p.Thr243Ser) | |
19 | g.4817008G>T | CA403489918 | TICAM1 | c.1370C>A (p.Thr457Asn) c.953C>A (p.Thr318Asn) c.1328C>A (p.Thr443Asn) c.1235C>A (p.Thr412Asn) c.728C>A (p.Thr243Asn) | |
19 | g.4817009T>A | CA403489920 | TICAM1 | c.1369A>T (p.Thr457Ser) c.952A>T (p.Thr318Ser) c.1327A>T (p.Thr443Ser) c.1234A>T (p.Thr412Ser) c.727A>T (p.Thr243Ser) | |
19 | g.4817009T>C | CA403489923 | TICAM1 | c.1369A>G (p.Thr457Ala) c.952A>G (p.Thr318Ala) c.1327A>G (p.Thr443Ala) c.1234A>G (p.Thr412Ala) c.727A>G (p.Thr243Ala) | |
19 | g.4817009T>G | CA403489924 | TICAM1 | c.1369A>C (p.Thr457Pro) c.952A>C (p.Thr318Pro) c.1327A>C (p.Thr443Pro) c.1234A>C (p.Thr412Pro) c.727A>C (p.Thr243Pro) | dbSNP |
19 | g.4817009T= | CA2319605110 | TICAM1 | c.1369A= (p.Thr457=) c.952A= (p.Thr318=) c.1327A= (p.Thr443=) c.1234A= (p.Thr412=) c.727A= (p.Thr243=) | |
19 | g.4817010G>A | CA9105149 | TICAM1 | c.1368C>T (p.Leu456=) c.951C>T (p.Leu317=) c.1326C>T (p.Leu442=) c.1233C>T (p.Leu411=) c.726C>T (p.Leu242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4817010G>C | CA505174323 | TICAM1 | c.1368C>G (p.Leu456=) c.951C>G (p.Leu317=) c.1326C>G (p.Leu442=) c.1233C>G (p.Leu411=) c.726C>G (p.Leu242=) | |
19 | g.4817010G= | CA2319605111 | TICAM1 | c.1368C= (p.Leu456=) c.951C= (p.Leu317=) c.1326C= (p.Leu442=) c.1233C= (p.Leu411=) c.726C= (p.Leu242=) | |
19 | g.4817010G>T | CA505174325 | TICAM1 | c.1368C>A (p.Leu456=) c.951C>A (p.Leu317=) c.1326C>A (p.Leu442=) c.1233C>A (p.Leu411=) c.726C>A (p.Leu242=) | |
19 | g.4817011A>C | CA403489928 | TICAM1 | c.1367T>G (p.Leu456Arg) c.950T>G (p.Leu317Arg) c.1325T>G (p.Leu442Arg) c.1232T>G (p.Leu411Arg) c.725T>G (p.Leu242Arg) | |
19 | g.4817011A>G | CA403489931 | TICAM1 | c.1367T>C (p.Leu456Pro) c.950T>C (p.Leu317Pro) c.1325T>C (p.Leu442Pro) c.1232T>C (p.Leu411Pro) c.725T>C (p.Leu242Pro) | |
19 | g.4817011A>T | CA403489930 | TICAM1 | c.1367T>A (p.Leu456His) c.950T>A (p.Leu317His) c.1325T>A (p.Leu442His) c.1232T>A (p.Leu411His) c.725T>A (p.Leu242His) | |
19 | g.4817012G>A | CA403489934 | TICAM1 | c.1366C>T (p.Leu456Phe) c.949C>T (p.Leu317Phe) c.1324C>T (p.Leu442Phe) c.1231C>T (p.Leu411Phe) c.724C>T (p.Leu242Phe) | gnomAD v4 |
19 | g.4817012G>C | CA403489936 | TICAM1 | c.1366C>G (p.Leu456Val) c.949C>G (p.Leu317Val) c.1324C>G (p.Leu442Val) c.1231C>G (p.Leu411Val) c.724C>G (p.Leu242Val) | gnomAD v4 |
19 | g.4817012G>T | CA403489937 | TICAM1 | c.1366C>A (p.Leu456Ile) c.949C>A (p.Leu317Ile) c.1324C>A (p.Leu442Ile) c.1231C>A (p.Leu411Ile) c.724C>A (p.Leu242Ile) | |
19 | g.4817013A>C | CA505174327 | TICAM1 | c.1365T>G (p.Leu455=) c.948T>G (p.Leu316=) c.1323T>G (p.Leu441=) c.1230T>G (p.Leu410=) c.723T>G (p.Leu241=) | |
19 | g.4817013A>G | CA505174328 | TICAM1 | c.1365T>C (p.Leu455=) c.948T>C (p.Leu316=) c.1323T>C (p.Leu441=) c.1230T>C (p.Leu410=) c.723T>C (p.Leu241=) | gnomAD v4 |
19 | g.4817013A>T | CA505174329 | TICAM1 | c.1365T>A (p.Leu455=) c.948T>A (p.Leu316=) c.1323T>A (p.Leu441=) c.1230T>A (p.Leu410=) c.723T>A (p.Leu241=) | |
19 | g.4817014A>C | CA403489940 | TICAM1 | c.1364T>G (p.Leu455Arg) c.947T>G (p.Leu316Arg) c.1322T>G (p.Leu441Arg) c.1229T>G (p.Leu410Arg) c.722T>G (p.Leu241Arg) | |
19 | g.4817014A>G | CA403489942 | TICAM1 | c.1364T>C (p.Leu455Pro) c.947T>C (p.Leu316Pro) c.1322T>C (p.Leu441Pro) c.1229T>C (p.Leu410Pro) c.722T>C (p.Leu241Pro) | |
19 | g.4817014A>T | CA403489943 | TICAM1 | c.1364T>A (p.Leu455His) c.947T>A (p.Leu316His) c.1322T>A (p.Leu441His) c.1229T>A (p.Leu410His) c.722T>A (p.Leu241His) | |
19 | g.4817015G>A | CA403489946 | TICAM1 | c.1363C>T (p.Leu455Phe) c.946C>T (p.Leu316Phe) c.1321C>T (p.Leu441Phe) c.1228C>T (p.Leu410Phe) c.721C>T (p.Leu241Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4817015G>C | CA403489948 | TICAM1 | c.1363C>G (p.Leu455Val) c.946C>G (p.Leu316Val) c.1321C>G (p.Leu441Val) c.1228C>G (p.Leu410Val) c.721C>G (p.Leu241Val) | |
19 | g.4817015G= | CA2319605112 | TICAM1 | c.1363C= (p.Leu455=) c.946C= (p.Leu316=) c.1321C= (p.Leu441=) c.1228C= (p.Leu410=) c.721C= (p.Leu241=) | |
19 | g.4817015G>T | CA403489949 | TICAM1 | c.1363C>A (p.Leu455Ile) c.946C>A (p.Leu316Ile) c.1321C>A (p.Leu441Ile) c.1228C>A (p.Leu410Ile) c.721C>A (p.Leu241Ile) | |
19 | g.4817016T>A | CA505174331 | TICAM1 | c.1362A>T (p.Leu454=) c.945A>T (p.Leu315=) c.1320A>T (p.Leu440=) c.1227A>T (p.Leu409=) c.720A>T (p.Leu240=) | |
19 | g.4817016T>C | CA304547511 | TICAM1 | c.1362A>G (p.Leu454=) c.945A>G (p.Leu315=) c.1320A>G (p.Leu440=) c.1227A>G (p.Leu409=) c.720A>G (p.Leu240=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4817016T>G | CA505174332 | TICAM1 | c.1362A>C (p.Leu454=) c.945A>C (p.Leu315=) c.1320A>C (p.Leu440=) c.1227A>C (p.Leu409=) c.720A>C (p.Leu240=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.4817016T= | CA2319605113 | TICAM1 | c.1362A= (p.Leu454=) c.945A= (p.Leu315=) c.1320A= (p.Leu440=) c.1227A= (p.Leu409=) c.720A= (p.Leu240=) | |
19 | g.4817017A>C | CA403489954 | TICAM1 | c.1361T>G (p.Leu454Arg) c.944T>G (p.Leu315Arg) c.1319T>G (p.Leu440Arg) c.1226T>G (p.Leu409Arg) c.719T>G (p.Leu240Arg) | |
19 | g.4817017A>G | CA403489953 | TICAM1 | c.1361T>C (p.Leu454Pro) c.944T>C (p.Leu315Pro) c.1319T>C (p.Leu440Pro) c.1226T>C (p.Leu409Pro) c.719T>C (p.Leu240Pro) | |
19 | g.4817017A>T | CA403489952 | TICAM1 | c.1361T>A (p.Leu454Gln) c.944T>A (p.Leu315Gln) c.1319T>A (p.Leu440Gln) c.1226T>A (p.Leu409Gln) c.719T>A (p.Leu240Gln) | |
19 | g.4817018G>A | CA505174334 | TICAM1 | c.1360C>T (p.Leu454=) c.943C>T (p.Leu315=) c.1318C>T (p.Leu440=) c.1225C>T (p.Leu409=) c.718C>T (p.Leu240=) | |
19 | g.4817018G>C | CA403489955 | TICAM1 | c.1360C>G (p.Leu454Val) c.943C>G (p.Leu315Val) c.1318C>G (p.Leu440Val) c.1225C>G (p.Leu409Val) c.718C>G (p.Leu240Val) | |
19 | g.4817018G>T | CA403489957 | TICAM1 | c.1360C>A (p.Leu454Ile) c.943C>A (p.Leu315Ile) c.1318C>A (p.Leu440Ile) c.1225C>A (p.Leu409Ile) c.718C>A (p.Leu240Ile) | |
19 | g.4817019G>A | CA505174335 | TICAM1 | c.1359C>T (p.Ile453=) c.942C>T (p.Ile314=) c.1317C>T (p.Ile439=) c.1224C>T (p.Ile408=) c.717C>T (p.Ile239=) | gnomAD v4 |
19 | g.4817019G>C | CA403489960 | TICAM1 | c.1359C>G (p.Ile453Met) c.942C>G (p.Ile314Met) c.1317C>G (p.Ile439Met) c.1224C>G (p.Ile408Met) c.717C>G (p.Ile239Met) | |
19 | g.4817019G>T | CA505174336 | TICAM1 | c.1359C>A (p.Ile453=) c.942C>A (p.Ile314=) c.1317C>A (p.Ile439=) c.1224C>A (p.Ile408=) c.717C>A (p.Ile239=) | |
19 | g.4817020A>C | CA403489962 | TICAM1 | c.1358T>G (p.Ile453Ser) c.941T>G (p.Ile314Ser) c.1316T>G (p.Ile439Ser) c.1223T>G (p.Ile408Ser) c.716T>G (p.Ile239Ser) | |
19 | g.4817020A>G | CA403489964 | TICAM1 | c.1358T>C (p.Ile453Thr) c.941T>C (p.Ile314Thr) c.1316T>C (p.Ile439Thr) c.1223T>C (p.Ile408Thr) c.716T>C (p.Ile239Thr) | |
19 | g.4817020A>T | CA403489966 | TICAM1 | c.1358T>A (p.Ile453Asn) c.941T>A (p.Ile314Asn) c.1316T>A (p.Ile439Asn) c.1223T>A (p.Ile408Asn) c.716T>A (p.Ile239Asn) | |
19 | g.4817021T>A | CA403489968 | TICAM1 | c.1357A>T (p.Ile453Phe) c.940A>T (p.Ile314Phe) c.1315A>T (p.Ile439Phe) c.1222A>T (p.Ile408Phe) c.715A>T (p.Ile239Phe) | |
19 | g.4817021T>C | CA9105150 | TICAM1 | c.1357A>G (p.Ile453Val) c.940A>G (p.Ile314Val) c.1315A>G (p.Ile439Val) c.1222A>G (p.Ile408Val) c.715A>G (p.Ile239Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.4817021T>G | CA403489971 | TICAM1 | c.1357A>C (p.Ile453Leu) c.940A>C (p.Ile314Leu) c.1315A>C (p.Ile439Leu) c.1222A>C (p.Ile408Leu) c.715A>C (p.Ile239Leu) | |
19 | g.4817021T= | CA2319605114 | TICAM1 | c.1357A= (p.Ile453=) c.940A= (p.Ile314=) c.1315A= (p.Ile439=) c.1222A= (p.Ile408=) c.715A= (p.Ile239=) | |
19 | g.4817022G>A | CA505174341 | TICAM1 | c.1356C>T (p.Ile452=) c.939C>T (p.Ile313=) c.1314C>T (p.Ile438=) c.1221C>T (p.Ile407=) c.714C>T (p.Ile238=) | COSMIC |
19 | g.4817022G>C | CA403489973 | TICAM1 | c.1356C>G (p.Ile452Met) c.939C>G (p.Ile313Met) c.1314C>G (p.Ile438Met) c.1221C>G (p.Ile407Met) c.714C>G (p.Ile238Met) | |
19 | g.4817022G>T | CA505174343 | TICAM1 | c.1356C>A (p.Ile452=) c.939C>A (p.Ile313=) c.1314C>A (p.Ile438=) c.1221C>A (p.Ile407=) c.714C>A (p.Ile238=) | |
19 | g.4817023A= | CA2319605115 | TICAM1 | c.1355T= (p.Ile452=) c.938T= (p.Ile313=) c.1313T= (p.Ile438=) c.1220T= (p.Ile407=) c.713T= (p.Ile238=) | |
19 | g.4817023A>C | CA403489976 | TICAM1 | c.1355T>G (p.Ile452Ser) c.938T>G (p.Ile313Ser) c.1313T>G (p.Ile438Ser) c.1220T>G (p.Ile407Ser) c.713T>G (p.Ile238Ser) | |
19 | g.4817023A>G | CA304547528 | TICAM1 | c.1355T>C (p.Ile452Thr) c.938T>C (p.Ile313Thr) c.1313T>C (p.Ile438Thr) c.1220T>C (p.Ile407Thr) c.713T>C (p.Ile238Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4817023A>T | CA9105151 | TICAM1 | c.1355T>A (p.Ile452Asn) c.938T>A (p.Ile313Asn) c.1313T>A (p.Ile438Asn) c.1220T>A (p.Ile407Asn) c.713T>A (p.Ile238Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.4817024T>A | CA403489984 | TICAM1 | c.1354A>T (p.Ile452Phe) c.937A>T (p.Ile313Phe) c.1312A>T (p.Ile438Phe) c.1219A>T (p.Ile407Phe) c.712A>T (p.Ile238Phe) | |
19 | g.4817024T>C | CA403489980 | TICAM1 | c.1354A>G (p.Ile452Val) c.937A>G (p.Ile313Val) c.1312A>G (p.Ile438Val) c.1219A>G (p.Ile407Val) c.712A>G (p.Ile238Val) | ClinVar |
19 | g.4817024T>G | CA403489982 | TICAM1 | c.1354A>C (p.Ile452Leu) c.937A>C (p.Ile313Leu) c.1312A>C (p.Ile438Leu) c.1219A>C (p.Ile407Leu) c.712A>C (p.Ile238Leu) | |
19 | g.4817025G>A | CA505174350 | TICAM1 | c.1353C>T (p.Phe451=) c.936C>T (p.Phe312=) c.1311C>T (p.Phe437=) c.1218C>T (p.Phe406=) c.711C>T (p.Phe237=) | |
19 | g.4817025G>C | CA403489986 | TICAM1 | c.1353C>G (p.Phe451Leu) c.936C>G (p.Phe312Leu) c.1311C>G (p.Phe437Leu) c.1218C>G (p.Phe406Leu) c.711C>G (p.Phe237Leu) | |
19 | g.4817025G>T | CA403489988 | TICAM1 | c.1353C>A (p.Phe451Leu) c.936C>A (p.Phe312Leu) c.1311C>A (p.Phe437Leu) c.1218C>A (p.Phe406Leu) c.711C>A (p.Phe237Leu) | |
19 | g.4817026A>C | CA403489990 | TICAM1 | c.1352T>G (p.Phe451Cys) c.935T>G (p.Phe312Cys) c.1310T>G (p.Phe437Cys) c.1217T>G (p.Phe406Cys) c.710T>G (p.Phe237Cys) | |
19 | g.4817026A>G | CA403489992 | TICAM1 | c.1352T>C (p.Phe451Ser) c.935T>C (p.Phe312Ser) c.1310T>C (p.Phe437Ser) c.1217T>C (p.Phe406Ser) c.710T>C (p.Phe237Ser) | |
19 | g.4817026A>T | CA403489994 | TICAM1 | c.1352T>A (p.Phe451Tyr) c.935T>A (p.Phe312Tyr) c.1310T>A (p.Phe437Tyr) c.1217T>A (p.Phe406Tyr) c.710T>A (p.Phe237Tyr) | |
19 | g.4817027A>C | CA403489996 | TICAM1 | c.1351T>G (p.Phe451Val) c.934T>G (p.Phe312Val) c.1309T>G (p.Phe437Val) c.1216T>G (p.Phe406Val) c.709T>G (p.Phe237Val) | |
19 | g.4817027A>G | CA403489998 | TICAM1 | c.1351T>C (p.Phe451Leu) c.934T>C (p.Phe312Leu) c.1309T>C (p.Phe437Leu) c.1216T>C (p.Phe406Leu) c.709T>C (p.Phe237Leu) | |
19 | g.4817027A>T | CA403490000 | TICAM1 | c.1351T>A (p.Phe451Ile) c.934T>A (p.Phe312Ile) c.1309T>A (p.Phe437Ile) c.1216T>A (p.Phe406Ile) c.709T>A (p.Phe237Ile) | |
19 | g.4817028A>C | CA505174356 | TICAM1 | c.1350T>G (p.Ala450=) c.933T>G (p.Ala311=) c.1308T>G (p.Ala436=) c.1215T>G (p.Ala405=) c.708T>G (p.Ala236=) | |
19 | g.4817028A>G | CA505174357 | TICAM1 | c.1350T>C (p.Ala450=) c.933T>C (p.Ala311=) c.1308T>C (p.Ala436=) c.1215T>C (p.Ala405=) c.708T>C (p.Ala236=) | COSMIC |
19 | g.4817028A>T | CA505174359 | TICAM1 | c.1350T>A (p.Ala450=) c.933T>A (p.Ala311=) c.1308T>A (p.Ala436=) c.1215T>A (p.Ala405=) c.708T>A (p.Ala236=) | |
19 | g.4817029G>A | CA403490003 | TICAM1 | c.1349C>T (p.Ala450Val) c.932C>T (p.Ala311Val) c.1307C>T (p.Ala436Val) c.1214C>T (p.Ala405Val) c.707C>T (p.Ala236Val) | |
19 | g.4817029G>C | CA403490005 | TICAM1 | c.1349C>G (p.Ala450Gly) c.932C>G (p.Ala311Gly) c.1307C>G (p.Ala436Gly) c.1214C>G (p.Ala405Gly) c.707C>G (p.Ala236Gly) | gnomAD v4 |
19 | g.4817029G>T | CA403490007 | TICAM1 | c.1349C>A (p.Ala450Asp) c.932C>A (p.Ala311Asp) c.1307C>A (p.Ala436Asp) c.1214C>A (p.Ala405Asp) c.707C>A (p.Ala236Asp) | |
19 | g.4817030C>A | CA403490013 | TICAM1 | c.1348G>T (p.Ala450Ser) c.931G>T (p.Ala311Ser) c.1306G>T (p.Ala436Ser) c.1213G>T (p.Ala405Ser) c.706G>T (p.Ala236Ser) | |
19 | g.4817030C>G | CA403490011 | TICAM1 | c.1348G>C (p.Ala450Pro) c.931G>C (p.Ala311Pro) c.1306G>C (p.Ala436Pro) c.1213G>C (p.Ala405Pro) c.706G>C (p.Ala236Pro) | |
19 | g.4817030C>T | CA403490009 | TICAM1 | c.1348G>A (p.Ala450Thr) c.931G>A (p.Ala311Thr) c.1306G>A (p.Ala436Thr) c.1213G>A (p.Ala405Thr) c.706G>A (p.Ala236Thr) | |
19 | g.4817031T>A | CA505174361 | TICAM1 | c.1347A>T (p.Ser449=) c.930A>T (p.Ser310=) c.1305A>T (p.Ser435=) c.1212A>T (p.Ser404=) c.705A>T (p.Ser235=) | |
19 | g.4817031T>C | CA505174365 | TICAM1 | c.1347A>G (p.Ser449=) c.930A>G (p.Ser310=) c.1305A>G (p.Ser435=) c.1212A>G (p.Ser404=) c.705A>G (p.Ser235=) | |
19 | g.4817031T>G | CA505174363 | TICAM1 | c.1347A>C (p.Ser449=) c.930A>C (p.Ser310=) c.1305A>C (p.Ser435=) c.1212A>C (p.Ser404=) c.705A>C (p.Ser235=) | |
19 | g.4817032G>A | CA403490014 | TICAM1 | c.1346C>T (p.Ser449Leu) c.929C>T (p.Ser310Leu) c.1304C>T (p.Ser435Leu) c.1211C>T (p.Ser404Leu) c.704C>T (p.Ser235Leu) | |
19 | g.4817032G>C | CA403490017 | TICAM1 | c.1346C>G (p.Ser449Ter) c.929C>G (p.Ser310Ter) c.1304C>G (p.Ser435Ter) c.1211C>G (p.Ser404Ter) c.704C>G (p.Ser235Ter) | |
19 | g.4817032G>T | CA403490016 | TICAM1 | c.1346C>A (p.Ser449Ter) c.929C>A (p.Ser310Ter) c.1304C>A (p.Ser435Ter) c.1211C>A (p.Ser404Ter) c.704C>A (p.Ser235Ter) | |
19 | g.4817033A>C | CA403490019 | TICAM1 | c.1345T>G (p.Ser449Ala) c.928T>G (p.Ser310Ala) c.1303T>G (p.Ser435Ala) c.1210T>G (p.Ser404Ala) c.703T>G (p.Ser235Ala) | |
19 | g.4817033A>G | CA403490021 | TICAM1 | c.1345T>C (p.Ser449Pro) c.928T>C (p.Ser310Pro) c.1303T>C (p.Ser435Pro) c.1210T>C (p.Ser404Pro) c.703T>C (p.Ser235Pro) | |
19 | g.4817033A>T | CA403490023 | TICAM1 | c.1345T>A (p.Ser449Thr) c.928T>A (p.Ser310Thr) c.1303T>A (p.Ser435Thr) c.1210T>A (p.Ser404Thr) c.703T>A (p.Ser235Thr) | |
19 | g.4817034G>A | CA505174368 | TICAM1 | c.1344C>T (p.His448=) c.927C>T (p.His309=) c.1302C>T (p.His434=) c.1209C>T (p.His403=) c.702C>T (p.His234=) | |
19 | g.4817034G>C | CA403490025 | TICAM1 | c.1344C>G (p.His448Gln) c.927C>G (p.His309Gln) c.1302C>G (p.His434Gln) c.1209C>G (p.His403Gln) c.702C>G (p.His234Gln) | |
19 | g.4817034G>T | CA403490027 | TICAM1 | c.1344C>A (p.His448Gln) c.927C>A (p.His309Gln) c.1302C>A (p.His434Gln) c.1209C>A (p.His403Gln) c.702C>A (p.His234Gln) | gnomAD v4 |